Further characterization of ATP6V0A2-related autosomal recessive cutis laxa. [electronic resource]
Producer: 20130108Description: 1761-73 p. digitalISSN:- 1432-1203
- Adolescent
- Adult
- Apoptosis
- Blotting, Western
- Brefeldin A -- pharmacology
- Cells, Cultured
- Child, Preschool
- Cutis Laxa -- congenital
- Enzyme-Linked Immunosorbent Assay
- Fibroblasts -- drug effects
- Fluorescent Antibody Technique
- Glycosylation -- drug effects
- Golgi Apparatus -- drug effects
- Humans
- Infant
- Male
- Mutation -- genetics
- Protein Synthesis Inhibitors -- pharmacology
- Protein Transport -- drug effects
- Proton-Translocating ATPases -- genetics
- RNA, Messenger -- genetics
- Real-Time Polymerase Chain Reaction
- Reverse Transcriptase Polymerase Chain Reaction
- Skin -- drug effects
- Transforming Growth Factor beta1 -- metabolism
- Young Adult
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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